Estudi i diagnòstic d'aneuploïdies en oòcits humans

Authors

  • Mariona Rius
  • Albert Obradors
  • Maria Oliver-Bonet
  • Jordi Benet
  • Joaquima Navarro

Abstract

The availability of biologic material discarded from IVF cycles has been pretty valuable for the study of aneuploidies in the first stages of embryonic development. The cytogenetic study of human oocytes requires the analysis of the MII oocyte and the corresponding 1rstPB separately. Fluorescent in situ hybridization and its variants, such as SKY, PRINS or cenM-FISH, have been very useful, although these techniques require a previous cell fixation. As an alternative, CGH does not require cell fixation and furthermore, it allows for the study of the whole chromosomal complement. Aneuploidy rate from published CGH results show a great variability. It ranges from 22% to 65%. This variability is mainly due to the use of different material: oocytes from women undergoing IVF and fresh oocytes from donors The mechanisms proposed for aneuploidy production are mainly alterations produced in anaphase I, such as homologous non-disjunction and premature separation of sister chromatids. Mitotic segregation failure in the oogonies produced during the early stages of embryonic development has also been reported. The translational application of studies has favoured the development of PGD, by means of FISH or CGH, for the aneuploidy diagnostic of female origin. At this moment, one of the challenges is to increase the implantation rate of the transferred embryos.

Published

2009-04-27